6 月龄新生儿糖尿病患儿存在新型 LRBA 复合杂合缺失。
Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
机构信息
Department of Human Genetics, The University of Chicago, 5841 S. Maryland Ave., G701, Chicago, IL 60637, USA.
Division of Pediatric Endocrinology and Metabolism, University Hospitals Rainbow Babies & Children's Hospital, 11100 Euclid Ave., Cleveland, OH 44106, USA.
出版信息
Diabetes Res Clin Pract. 2021 May;175:108798. doi: 10.1016/j.diabres.2021.108798. Epub 2021 Apr 15.
Abstract
We report a 6-month-old boy with antibody-positive insulin-dependent diabetes mellitus. Sequencing identified compound heterozygous deletions of exon 5 and exons 36-37 in LRBA. At three years, he has yet to exhibit any other immune symptoms. Genetic testing of LRBA is warranted in patients with neonatal diabetes, even without immune dysregulation.
摘要
我们报告了一例 6 个月大的男性患儿，其患有抗体阳性的胰岛素依赖型糖尿病。基因测序发现 LRBA 外显子 5 和外显子 36-37 复合杂合性缺失。截至三岁时，他尚未出现任何其他免疫症状。对于新生儿糖尿病患者，即使没有免疫失调，也应进行 LRBA 的基因检测。
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